Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs786201856
rs786201856
APC
0.730 GeneticVariation BEFREE Apart from the two previously reported mutation hotspots c.3927_3931delAAAGA (20.47%) and c.3183_3187delACAAA (7.09%), c.847C>T/p.Arg283Ter variant occurred with a frequency of 3.15% (4 out of 127) in Chinese FAP patients. 26625971

2016

dbSNP: rs786201856
rs786201856
APC
0.730 GeneticVariation BEFREE We conclude that an Arg283Ter mutation in the APC gene is causative of the FAP phenotype in this family, although there is considerable variation in the presentation of this disease among affected individuals. 12901799

2003

dbSNP: rs786201856
rs786201856
APC
0.730 GeneticVariation BEFREE An Arg283Stop mutation in exon 8 was found in 5 members in another family; 4 of them had FAP and all had small hypopigmented white lesions, probably a new type of CHRPE. 10755094

2000

dbSNP: rs786201856
rs786201856
APC
T 0.730 CausalMutation CLINVAR

dbSNP: rs137854580
rs137854580
APC
0.720 GeneticVariation BEFREE Sequence analysis revealed that a patient with a high level of ASE who did not have a family history of CRC carried a nonsense mutation in APC (p.Arg216X). 21995949

2012

dbSNP: rs62619935
rs62619935
APC
0.720 GeneticVariation BEFREE Sequence analysis revealed that a patient with a high level of ASE who did not have a family history of CRC carried a nonsense mutation in APC (p.Arg216X). 21995949

2012

dbSNP: rs72541816
rs72541816
APC
0.720 GeneticVariation BEFREE However, special attention must be given to the missense mutations Asp1822Val and Ser2621Cys since their segregation with the FAP phenotype is questionable. 11668620

2001

dbSNP: rs137854580
rs137854580
APC
0.720 GeneticVariation BEFREE A mutation in exon 6, Arg216Stop, was identified in one patient with FAP and CHRPE. 10755094

2000

dbSNP: rs62619935
rs62619935
APC
0.720 GeneticVariation BEFREE A mutation in exon 6, Arg216Stop, was identified in one patient with FAP and CHRPE. 10755094

2000

dbSNP: rs72541816
rs72541816
APC
0.720 GeneticVariation BEFREE One previously described as a causative germline mutation (S2621C), associated with a 1-bp insertion (4684insA) on the opposite allele, did not segregate with the FAP phenotype in the family and was therefore considered as being non-pathogenic. 9341879

1997

dbSNP: rs137854580
rs137854580
APC
T 0.720 CausalMutation CLINVAR

dbSNP: rs62619935
rs62619935
APC
T 0.720 CausalMutation CLINVAR

dbSNP: rs72541816
rs72541816
APC
0.720 GeneticVariation UNIPROT

dbSNP: rs121913224
rs121913224
APC
0.710 GeneticVariation BEFREE Genetic testing using massively parallel sequencing identified a 5-bp deletion (c.3927_3931delAAAGA) which causes frameshift (p.Glu1309Aspfs) and creates a premature stop codon, resulting in the replacement of the last 1535 amino acids of APC by five incorrect amino acids. 30340471

2018

dbSNP: rs397515734
rs397515734
APC
0.710 GeneticVariation BEFREE In them, 2 rare variants (c.694C>T in APC and c.1690A>G in MSH2) might be the putative causal mutations for familial adenomatous polyposis (FAP) since the rarity of the mutated allele in normal controls. c.694C>T was detected in only affected members and generated a premature stop codon in APC. 24735542

2014

dbSNP: rs121913224
rs121913224
APC
T 0.710 CausalMutation CLINVAR APC germline mutations in individuals being evaluated for familial adenomatous polyposis: a review of the Mayo Clinic experience with 1591 consecutive tests. 23159591

2013

dbSNP: rs397515734
rs397515734
APC
T 0.710 CausalMutation CLINVAR Mutation analysis of the APC gene in unrelated Korean patients with FAP: four novel mutations with unusual phenotype. 21110124

2011

dbSNP: rs397515734
rs397515734
APC
T 0.710 CausalMutation CLINVAR Clinical and genetic characterization of classical forms of familial adenomatous polyposis: a Spanish population study. 20924072

2011

dbSNP: rs397515734
rs397515734
APC
T 0.710 CausalMutation CLINVAR Mutational spectrum of APC and genotype-phenotype correlations in Greek FAP patients. 20649969

2010

dbSNP: rs137854575
rs137854575
APC
A 0.710 CausalMutation CLINVAR APC mutation spectrum of Norwegian familial adenomatous polyposis families: high ratio of novel mutations. 19444466

2009

dbSNP: rs137854575
rs137854575
APC
A 0.710 CausalMutation CLINVAR APC or MUTYH mutations account for the majority of clinically well-characterized families with FAP and AFAP phenotype and patients with more than 30 adenomas. 19793053

2009

dbSNP: rs121913224
rs121913224
APC
T 0.710 CausalMutation CLINVAR APC gene mutations causing familial adenomatous polyposis in Polish patients. 19029688

2008

dbSNP: rs137854575
rs137854575
APC
A 0.710 CausalMutation CLINVAR APC gene mutations causing familial adenomatous polyposis in Polish patients. 19029688

2008

dbSNP: rs137854575
rs137854575
APC
A 0.710 CausalMutation CLINVAR Novel APC mutations in Czech and Slovak FAP families: clinical and genetic aspects. 17411426

2007

dbSNP: rs137854575
rs137854575
APC
A 0.710 CausalMutation CLINVAR Cyclooxygenase-2 and platelet-derived growth factor receptors as potential targets in treating aggressive fibromatosis. 17785554

2007